ArticleNature biotechnology2011
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Article in Nature biotechnology, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 255 papers, 7 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
255 citing papers in PubMed, 7 syntheses or guidelines pooled it.
- Contribution of copy number variants to schizophrenia in East Asian populations.Nature genetics · 2026Pooled it
- Genome-wide association meta-analysis and rare copy number variant analysis of treatment-resistant depression.Molecular psychiatry · 2025Pooled it
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism.Nature genetics · 2022Pooled it
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study.Molecular psychiatry · 2021Pooled it
- Pooled it
- ACMG Standards and Guidelines for constitutional cytogenomic microarray analysis, including postnatal and prenatal applications: revision 2013.Genetics in medicine : official journal of the American College of Medical Genetics · 2013Guideline
- Trial
- Extensive load of somatic CNVs in the human placenta.Scientific reports · 2015Trial
- Computational strategies for copy number variation detection, disease association, and beyond.Genome biology · 2026Review
- MarkerMatch: a proximity-based probe-matching algorithm for joint analysis of copy-number variants from different genotyping arrays.Bioinformatics (Oxford, England) · 2026Article
- Genome-wide association study of copy number variations in Parkinson's disease.NPJ Parkinson's disease · 2026Article
- Copy Number Variation Analysis.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Construction of a Genome-Wide Copy Number Variation Map and Association Analysis of Black Spot in Jujube.Plants (Basel, Switzerland) · 2025Article
- The genomic comparison between autochthonous and cosmopolitan cows reveals structural variants involved in environmental adaptation.Scientific reports · 2025Article
- Mechanistic Evaluation of Thymoquinone Derivative-Induced Apoptosis in Human Glioblastoma Cells.Journal of pharmacy & bioallied sciences · 2025Article
- The Eating Disorders Genetics Initiative 2 (EDGI2): study protocol.BMC psychiatry · 2025Article
- Article
- EMcnv: enhancing CNV detection performance through ensemble strategies with heterogeneous meta-graph neural networks.Briefings in bioinformatics · 2025Article
- Chromosomal quality control in hPSCs: A practical guide to SNP array analysis with GenomeStudio.Frontiers in cell and developmental biology · 2025Article
195 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
22 authors.
Funding
Abstract
We have systematically compared copy number variant (CNV) detection on eleven microarrays to evaluate data quality and CNV calling, reproducibility, concordance across array platforms and laboratory sites, breakpoint accuracy and analysis tool variability. Different analytic tools applied to the same raw data typically yield CNV calls with <50% concordance. Moreover, reproducibility in replicate experiments is <70% for most platforms. Nevertheless, these findings should not preclude detection of large CNVs for clinical diagnostic purposes because large CNVs with poor reproducibility are found primarily in complex genomic regions and would typically be removed by standard clinical data curation. The striking differences between CNV calls from different platforms and analytic tools highlight the importance of careful assessment of experimental design in discovery and association studies and of strict data curation and filtering in diagnostics. The CNV resource presented here allows independent data evaluation and provides a means to benchmark new algorithms.
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What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.